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Topic 11, polymorphisms & genetic analysis.ppt.edu

Topic 11, polymorphisms & genetic analysis.ppt.edu...

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Topic 11—Polymorphisms and Genetic Analysis
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Learning Objectives Be able to define the following terms: genetic polymorphism, restriction fragment length polymorphism (RFLP), types of mutations: deletion, insertion, substitution, silent, frameshift Be able to explain why polymorphisms may or may not have an impact on the phenotype of an organism Know what frameshift mutations are and why these have dramatic phenotypes Be able to identify and draw examples of different types of polymorphisms Be able to describe how restriction fragment length polymorphisms (RFLPs) are generated and used to identify diseases, crime victims, and criminals Also, how DNA microarrays are the current technique of choice
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Polymorphism The coexistence in a population of multiple alleles at a given locus Allele? Same gene, different nucleotide sequences
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Polymorphisms “Polymorphism” simply refers to differences in DNA sequences that occur in a population We’ll discuss in lecture 15 how these differences are generated
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Types of polymorphisms SNPs (single nucleotide polymorphisms) Can be substitutions, deletions, insertions Larger deletions/insertions VNTRs (variable number of tandem repeats)
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Figure 7.07a: Functioning gene (non-mutant, aka “wild-type”)
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Substitution mutant --Substitution means that one nucleotide has replaced another, total number is still the same
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Figure 7.07c: Double substitution mutant
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Figure 7.07d: Deletion mutant: some nucleotides are now missing
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Figure 7.07e: Insertion mutant: some new nucleotides are now present
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The wobble hypothesis—what is it and how does it relate to polymorphisms?
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